hrp0082p2-d2-271 | Adrenals & HP Axis (1) | ESPE2014

The Results of CYP21A2 Mutation Analysis in Adolescent with Polycystic Ovary Syndrome

Yagli Colakoglu Elif , Bulus Derya , Andiran Nesibe , Ufuk Isin Ugur

Background: Diagnosis of polycystic ovary syndrome (PCOS) in the adolescent is difficult due to high background rate of menstrual irregularity, high prevalence of polycystic morphology and hyper and rogenic features in this population. Also late onset congenital adrenal hyperplasia (LOCAH) mimics PCOS in this period. It is important to distinguish these entities because of the differences in their therapy. The study aimed to find out the frequency of LOCAH in patients who diag...

hrp0082p2-d1-454 | Growth | ESPE2014

Endocrine characteristics of patients with anorexia nervosa in a large paediatric study cohort

Toenne Moritz , Datz Nicolin , Heger Sabine , Hartmann Rainhard , Danne Thomas , Kuznik Gerd , Neuhaus Burkhard , Kordonouri Olga

Aim: To examine the prevalence of endocrine abnormalities and outcome in children and adolescents with Anorexia nervosa (AN).Methods: The study cohort consisted of 181 patients (age 14.6±1.9 years; 160 girls, 21 boys) with AN (n=137), atypical AN (n=6) and other eating disorders except of Bulimia (n=38) who were hospitalized between Jan 2010 and Feb 2013. Somatometric [body-mass-index (BMI), BMI-SDS] and endocrine parameters were a...

hrp0082p3-d2-834 | Growth (1) | ESPE2014

Effectiveness of GH Therapy in Children with Short Stature and Decreased GH Peak in Stimulating Tests is Independent from GH Secretion After Falling Asleep

Hilczer Maciej , Smyczynska Joanna , Stawerska Renata , Lewinski Andrzej

Background: GH deficiency (GHD) is routinely diagnosed on the basis of decreased GH peak in two stimulating tests (GHST). In Poland, few years ago, an assessment of nocturnal GH secretion after falling asleep (noctGH) has been introduced as a screening test in diagnosing GHD.Objective and hypotheses: The aim of the study was to assess GH therapy effectiveness in children with decreased GHST with respect to noctGH.Method: Retrospect...

hrp0084fc3.5 | Diabetes | ESPE2015

C-Peptide Levels and Glycaemic Control in Children, Adolescents, and Young Adults with Type 1 Diabetes

Xatzipsalti Maria , Maravelia Vasiliki , Papadimitriou Eirini , Kitsiou Efrosini , Stamogiannou Lela , Delis Dimitris , Vazeou Andriani

Background: C-peptide, an indicator of own insulin production, is usually very low in patients with type 1 diabetes (T1D).Objective and hypotheses: The aim of the study was to evaluate C-peptide levels in children and adolescents and young adults with T1D and to correlate them with glycemic control.Method: Fasting C-peptide levels were measured with RIA, in 118 children, adolescents and young adults (60 females, mean age 13.3 <smal...

hrp0084p1-75 | Fat | ESPE2015

Ghrelin and Brain-Derived Neurotrophic Factor in Children with Prader-Willi Syndrome

Bogova Elena , Volevodz Natalya , Peterkova Valentina

Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder arising from lack of expression of paternally inherited imprinted genes on chromosome 15q11–q13. Hyperphagia represents one of the most serious symptoms of the PWS, leading to develop premature mortality.Objective and hypotheses: To compare orexigenic (ghrelin) and anorexigenic factor (brain derived neurotrophic factor (BDNF)) concentration in non-GH-treated obese pati...

hrp0084p3-1154 | Puberty | ESPE2015

The Relationships between Serum Vitamin D Level and Precocious Puberty in Korean Girls

Kim Se Young , Woo Yeoloon

Background: The recent articles showed a kind of associations of the serum vitamin D levels and chronic diseases, for example, autoimmune diseases, vascular disorders, as well as malignancies. Also vitamin D deficiency impacts normal growth and maximal bone mineral accretion in puberty. Of pediatric population in Korea, the prevalence of cases of vitamin D deficiency and precocious puberty were continuously increasing nowadays.Objective and hypotheses: W...

hrp0094p2-302 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Two Sibling Cases with Growth Hormone Receptor Mutation: Variable Clinical Expressivity in Laron Syndrome

Sarıkaya Ozdemir Behiye , Cetinkaya Semra , Guleray Lafcı Naz , Şakar Merve , Kucukali Gulin Karacan , Elmaoğulları Selin , Savaş Erdeve Şenay ,

Background: Laron syndrome (LS) is a disorder of primary growth hormone (GH) resistance caused by genetic defects in GH and insulin-like growth factor 1 (IGF-1) axis. Here, we present the variable clinical spectrum in two sibling cases of Iraqi Arab origin with GH receptor (GHR) mutation.CASES: Two siblings referred to our clinic with the chief complaint of short stature. They had been born with a normal weight at term.Their parents were...

hrp0097rfc6.6 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Evaluation of Serum MKRN3 and DLK1 Concentrations for Predicting Variant Detection in MKRN3 and DLK1Genes in Patients with Central Precocious Puberty

Karakilic Ozturan Esin , Karaman Volkan , Gedikbaşı Asuman , Poyrazoglu Sukran , Oya Uyguner Zehra , Darendeliler Feyza , Bas Firdevs

Introduction: Loss-of-function mutations in genomically imprinted MKRN3 and DLK1 genes cause familial central precocious puberty (CPP) and may result in low serum concentrations of these proteins. This study aimed to evaluate the predictive value of serum MKRN3 and DLK1 concentrations for detecting variants in related genes.Material-Method: This retrospective study included 26 girls with CPP, of which 11 were receiving G...

hrp0097rfc11.5 | GH and IGFs | ESPE2023

Influence of sirtuin 1 and fibroblast growth factor 21 levels on IGF-1 concentration in children with short stature of different etiology

Fedorczak Anna , Stawerska Renata , Lewiński Andrzej

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

hrp0097p1-418 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Comparison of efficacy and safety of oral cholecalciferol administration at 4-week intervals and daily administration to correct vitamin D deficiency in adolescents

Choi Jinjoo , Choe Yunsoo , Yang Seung

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...